ClinVar Miner

List of variants in gene combination AMN, LOC130056554 reported as likely benign for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_030943.4(AMN):c.989C>A (p.Ala330Glu) rs542237999 0.00018
NM_030943.4(AMN):c.1086G>A (p.Ala362=) rs959195796 0.00014
NM_030943.4(AMN):c.969G>A (p.Arg323=) rs899760936 0.00001
NM_030943.4(AMN):c.1002G>A (p.Glu334=)
NM_030943.4(AMN):c.1006+12C>G
NM_030943.4(AMN):c.1006+12_1006+35dup
NM_030943.4(AMN):c.1006+13G>A
NM_030943.4(AMN):c.1006+14C>T
NM_030943.4(AMN):c.1006+18_1006+27del
NM_030943.4(AMN):c.1006+23_1006+36del
NM_030943.4(AMN):c.1006+27C>T
NM_030943.4(AMN):c.1006+28G>T
NM_030943.4(AMN):c.1006+33G>A
NM_030943.4(AMN):c.1006+33G>T
NM_030943.4(AMN):c.1006+36_1007-34dup
NM_030943.4(AMN):c.1006+8C>A
NM_030943.4(AMN):c.1006+9G>A
NM_030943.4(AMN):c.1006+9G>T
NM_030943.4(AMN):c.1007-11C>G
NM_030943.4(AMN):c.1007-11C>T
NM_030943.4(AMN):c.1007-13C>T
NM_030943.4(AMN):c.1007-14C>T
NM_030943.4(AMN):c.1007-15G>A
NM_030943.4(AMN):c.1007-16G>A
NM_030943.4(AMN):c.1007-29G>C
NM_030943.4(AMN):c.1007-30G>C
NM_030943.4(AMN):c.1007-30G>T
NM_030943.4(AMN):c.1007-31G>C
NM_030943.4(AMN):c.1007-31_1007-30insCC
NM_030943.4(AMN):c.1007-32C>T
NM_030943.4(AMN):c.1007-33G>T
NM_030943.4(AMN):c.1007-34del
NM_030943.4(AMN):c.1007-38_1007-34dup
NM_030943.4(AMN):c.1007-4G>A
NM_030943.4(AMN):c.1007-7G>A
NM_030943.4(AMN):c.1007-9C>T
NM_030943.4(AMN):c.1008C>A (p.Gly336=)
NM_030943.4(AMN):c.1011G>A (p.Glu337=)
NM_030943.4(AMN):c.1014C>A (p.Ala338=)
NM_030943.4(AMN):c.1017C>A (p.Leu339=) rs1230984626
NM_030943.4(AMN):c.1020C>T (p.Gly340=)
NM_030943.4(AMN):c.1029G>A (p.Glu343=)
NM_030943.4(AMN):c.1039C>A (p.Arg347=)
NM_030943.4(AMN):c.1065C>T (p.Gly355=)
NM_030943.4(AMN):c.1068C>T (p.Ser356=)
NM_030943.4(AMN):c.1077T>A (p.Ala359=)
NM_030943.4(AMN):c.1089C>T (p.Gly363=)
NM_030943.4(AMN):c.1092C>T (p.Gly364=)
NM_030943.4(AMN):c.1098G>A (p.Ala366=)
NM_030943.4(AMN):c.1104C>G (p.Ala368=)
NM_030943.4(AMN):c.1104C>T (p.Ala368=)
NM_030943.4(AMN):c.1108C>T (p.Leu370=)
NM_030943.4(AMN):c.1117C>T (p.Leu373=)
NM_030943.4(AMN):c.945G>T (p.Gly315=)
NM_030943.4(AMN):c.954A>C (p.Thr318=)
NM_030943.4(AMN):c.954A>G (p.Thr318=)
NM_030943.4(AMN):c.957C>A (p.Gly319=)
NM_030943.4(AMN):c.967C>A (p.Arg323=)
NM_030943.4(AMN):c.972G>A (p.Leu324=)
NM_030943.4(AMN):c.975C>T (p.Ala325=)
NM_030943.4(AMN):c.987G>A (p.Leu329=)
NM_030943.4(AMN):c.990G>A (p.Ala330=)

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